1FO3.A | MAN1B1

General Structure Information

PDB ID	1fo3
HGNC Gene Label(s)	MAN1B1
Structure Name	crystal structure of human class i alpha1,2-mannosidase in complex with kifunensine
Resolution	1.75Å
Reference	AUTH F.VALLEE,K.KARAVEG,A.HERSCOVICS,K.W.MOREMEN,AUTH 2 P.L.HOWELLTITL STRUCTURAL BASIS FOR CATALYSIS AND INHIBITION OFTITL 2 N-GLYCAN PROCESSING CLASS I ALPHA 1,2-MANNOSIDASES.REF J.BIOL.CHEM. V. 275 41287 2000REFN ISSN 0021-9258PMID 10995765DOI 10.1074/JBC.M006927200

Variant Set Distributions

ExAC Variants

Number Of Residues	453
Number Of SNVs	157
Number Of Permutations	54112
Optimal Distance Threshold	20.0
K Statistic	0.234
p-value	0.074

COSMIC

Number Of Residues	453
Number Of SNVs	6
Number Of Permutations	519
Optimal Distance Threshold	7.0
K Statistic	0.067
p-value	0.62

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	157
Number Of COSMIC SNVs	6
Optimal Distance Threshold	32.0
K Statistic	0.267
p-value	0.433

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
9:139992387		P>L	A:243	(55.86, 23.02, 10.33)
9:139994151		H>R	A:245	(51.85, 20.26, 8.44)
9:139994162	COSM3088613	R>C	A:249	(45.64, 31.47, 4.28)
9:139994171		G>S	A:252	(51.42, 33.10, 8.89)
9:139994174		V>M	A:253	(49.38, 32.96, 11.93)
9:139994183		V>I	A:256	(52.45, 37.06, 13.19)
9:139994186		F>V	A:257	(52.68, 34.10, 18.22)
9:139994187		F>S	A:257	(52.68, 34.10, 18.22)
9:139994193	rs201673635	H>R	A:259	(57.32, 40.10, 15.22)
9:139994195		A>S	A:260	(54.94, 39.08, 18.79)
9:139994196		A>V	A:260	(54.94, 39.08, 18.79)
9:139994203		K>N	A:262	(61.14, 39.21, 18.83)
9:139994210	rs541409222	R>C	A:265	(61.52, 35.87, 24.57)
9:139994211	rs114057640	R>H	A:265	(61.52, 35.87, 24.57)
9:139994214		K>M	A:266	(63.58, 41.06, 23.42)
9:139994222		W>R	A:269	(59.27, 36.26, 29.88)
9:139994225		G>S	A:270	(56.31, 38.44, 32.99)
9:139994229		H>R	A:271	(56.20, 41.92, 32.82)
9:139994246	rs369173536	V>M	A:277	(56.78, 51.49, 20.47)
9:139994253		R>K	A:279	(62.32, 48.87, 22.29)
9:139994262		S>N	A:282	(52.30, 46.91, 31.25)
9:139994267		W>R	A:284	(44.91, 44.81, 34.35)
9:139994274		G>D	A:286	(50.98, 40.87, 37.90)
9:139994279	rs138090529	G>S	A:288	(51.36, 37.29, 33.17)
9:139994283	rs373804871	L>P	A:289	(47.78, 38.63, 31.52)
9:139994285	rs376363238	T>S	A:290	(50.43, 38.05, 27.65)
9:139994291	rs573043401	I>V	A:292	(48.62, 33.01, 31.28)
9:139994294	rs142518201	D>N	A:293	(45.86, 34.78, 27.46)
9:139994298	rs144767615	A>V	A:294	(49.29, 32.46, 25.09)
9:139994306		T>S	A:297	(47.93, 30.01, 21.23)
9:139994309		M>V	A:298	(52.15, 28.93, 22.51)
9:139994321		G>S	A:302	(53.54, 24.32, 17.81)
9:139994322		G>D	A:302	(53.54, 24.32, 17.81)
9:139994333		E>K	A:306	(58.10, 28.84, 22.22)
9:139995475		K>R	A:312	(58.88, 27.61, 33.49)
9:139995476	rs376305905	K>N	A:312	(58.88, 27.61, 33.49)
9:139995483		S>T	A:315	(56.85, 26.72, 37.91)
9:139995484	rs370313480	S>L	A:315	(56.85, 26.72, 37.91)
9:139995510	COSM255860	V>M	A:324	(46.57, 42.48, 43.96)
9:139995516		V>I	A:326	(41.81, 41.22, 40.77)
9:139995540	rs387906886	R>C	A:334	(42.25, 37.62, 30.62)
9:139995556		L>H	A:339	(45.69, 28.10, 33.75)
9:139995582	rs184782012	D>Y	A:348	(51.17, 19.99, 33.03)
9:139995583	rs370807578	D>G	A:348	(51.17, 19.99, 33.03)
9:139995600		K>E	A:354	(49.03, 27.49, 39.74)
9:139995602		K>N	A:354	(49.03, 27.49, 39.74)
9:139995946		G>E	A:359	(39.93, 30.15, 42.73)
9:139995951	rs376873444	R>W	A:361	(43.95, 33.19, 46.48)
9:139995960		P>T	A:364	(36.19, 36.03, 48.32)
9:139995975		P>S	A:369	(23.92, 40.07, 50.28)
9:139995981		K>E	A:371	(24.66, 35.06, 47.20)
9:139995982		K>R	A:371	(24.66, 35.06, 47.20)
9:139995986	rs148707659	I>M	A:372	(25.51, 38.91, 43.01)
9:139996005		I>V	A:379	(44.58, 37.44, 45.21)
9:139996008		G>S	A:380	(45.91, 38.03, 49.32)
9:139996009	rs150891378	G>D	A:380	(45.91, 38.03, 49.32)
9:139996033		R>Q	A:388	(35.36, 53.34, 40.68)
9:139996042		S>Y	A:391	(29.12, 51.11, 42.36)
9:139996048		S>N	A:393	(28.39, 44.86, 39.34)
9:139996050	rs369551783	T>A	A:394	(29.01, 44.43, 35.24)
9:139996062		V>L	A:398	(28.33, 38.38, 37.04)
9:139996068		S>G	A:400	(31.02, 35.81, 32.02)
9:139996098	rs147718581	R>C	A:410	(35.13, 18.19, 34.96)
9:139996099	rs145477274	R>H	A:410	(35.13, 18.19, 34.96)
9:139996108		G>E	A:413	(35.46, 18.24, 43.25)
9:139996111		D>V	A:414	(35.51, 21.96, 45.09)
9:139996116		K>E	A:416	(33.67, 26.05, 46.35)
9:140000592		V>L	A:424	(24.61, 34.03, 39.54)
9:140000598		Q>E	A:426	(18.56, 30.64, 38.73)
9:140000602	rs369865587	H>R	A:427	(19.25, 36.30, 40.95)
9:140000605		I>T	A:428	(20.13, 36.72, 36.31)
9:140000608	rs144289532	H>R	A:429	(15.77, 32.78, 34.83)
9:140000610	rs199553033	G>S	A:430	(14.27, 35.83, 37.68)
9:140000617		S>C	A:432	(13.03, 41.97, 36.96)
9:140000619	rs143450360	G>W	A:433	(14.19, 44.26, 33.80)
9:140000620		G>E	A:433	(14.19, 44.26, 33.80)
9:140000628		D>H	A:436	(11.80, 40.95, 25.21)
9:140000637		V>L	A:439	(20.17, 42.42, 30.06)
9:140000640		P>S	A:440	(20.28, 45.39, 32.23)
9:140000643		M>V	A:441	(24.98, 47.68, 31.42)
9:140000664		G>C	A:448	(20.29, 42.14, 43.27)
9:140000683		G>V	A:454	(16.36, 50.88, 29.83)
9:140000685	rs201323382	V>I	A:455	(19.84, 50.96, 28.94)
9:140000751	rs75639549	G>R	A:477	(24.91, 18.75, 27.20)
9:140000755	rs138658585	K>R	A:478	(22.93, 20.01, 24.35)
9:140000767		Q>R	A:482	(16.27, 27.55, 32.61)
9:140001163		A>T	A:490	(17.44, 37.13, 23.53)
9:140001164		A>V	A:490	(17.44, 37.13, 23.53)
9:140001169		E>K	A:492	(13.66, 36.75, 19.01)
9:140001175	rs371118781	V>I	A:494	(18.09, 41.31, 19.25)
9:140001182	rs150211352	T>M	A:496	(12.43, 42.98, 18.51)
9:140001184		H>Y	A:497	(13.65, 45.66, 20.85)
9:140001194	rs149339002	R>Q	A:500	(17.11, 49.22, 12.52)
9:140001197	rs141610337	H>R	A:501	(18.48, 46.80, 8.16)
9:140001214		L>F	A:507	(24.50, 46.67, 5.93)
9:140001235		A>T	A:514	(17.79, 54.38, 25.49)
9:140001239		H>P	A:515	(15.57, 55.28, 28.48)
9:140001241		G>S	A:516	(13.44, 54.17, 23.36)
9:140001244	rs531386653	R>C	A:517	(16.05, 57.82, 21.25)
9:140001245		R>H	A:517	(16.05, 57.82, 21.25)
9:140001251		S>I	A:519	(21.65, 54.12, 18.80)
9:140001260		M>T	A:522	(27.99, 48.11, 16.24)
9:140001736		A>V	A:534	(26.58, 29.78, 14.28)
9:140001744		V>I	A:537	(22.93, 26.72, 14.03)
9:140001753	rs370134279 COSM3722458	G>S	A:540	(19.94, 23.38, 16.79)
9:140001767	rs374110310	S>R	A:544	(16.83, 32.26, 11.92)
9:140001771	rs144672735	M>V	A:546	(22.80, 31.04, 9.86)
9:140001783		Q>E	A:550	(24.97, 34.42, 6.80)
9:140001784		Q>R	A:550	(24.97, 34.42, 6.80)
9:140001789	COSM3655943	L>V	A:552	(25.71, 40.30, 11.59)
9:140001792		M>V	A:553	(30.28, 38.13, 9.39)
9:140001811		M>T	A:559	(32.89, 47.25, 10.54)
9:140001817	rs369011797	R>Q	A:561	(38.16, 45.49, 3.65)
9:140001822		M>V	A:563	(37.92, 51.38, 7.35)
9:140001829		T>M	A:565	(43.60, 50.22, 7.53)
9:140001832		G>E	A:566	(41.13, 47.20, 7.28)
9:140001841		P>L	A:569	(36.58, 50.73, 14.18)
9:140001843		E>K	A:570	(36.51, 50.29, 19.44)
9:140001849		V>M	A:572	(30.47, 51.63, 13.65)
9:140001852	rs140883989	H>Y	A:573	(27.89, 55.32, 14.45)
9:140001859	rs375378489	N>S	A:575	(23.26, 55.88, 7.92)
9:140001861		L>F	A:576	(18.81, 54.19, 9.88)
9:140001870		Q>K	A:579	(21.27, 60.75, 2.08)
9:140001871	rs115536398	Q>R	A:579	(21.27, 60.75, 2.08)
9:140001873	rs200860565	P>A	A:580	(21.54, 60.20, -1.96)
9:140001874	rs200676067	P>L	A:580	(21.54, 60.20, -1.96)
9:140001877	rs376968555	G>D	A:581	(25.79, 59.23, -1.30)
9:140001879	rs142406504	R>C	A:582	(24.69, 59.59, 3.81)
9:140001880	rs557278057	R>H	A:582	(24.69, 59.59, 3.81)
9:140001882		R>W	A:583	(29.50, 56.50, 2.75)
9:140001883	rs574151197	R>Q	A:583	(29.50, 56.50, 2.75)
9:140001886		D>G	A:584	(26.25, 52.43, 4.72)
9:140001894		V>I	A:587	(33.71, 56.67, 11.99)
9:140001984		P>Q	A:589	(36.79, 61.08, 15.42)
9:140001992		R>G	A:592	(39.75, 57.63, 14.07)
9:140001995	rs370346164	H>D	A:593	(41.32, 54.26, 18.64)
9:140002007	rs374963946 COSM1461323	R>W	A:597	(39.22, 44.55, 20.38)
9:140002008		R>Q	A:597	(39.22, 44.55, 20.38)
9:140002019		V>M	A:601	(38.60, 36.72, 13.47)
9:140002029		L>R	A:604	(35.30, 34.66, 10.21)
9:140002033		F>L	A:605	(36.23, 29.38, 13.96)
9:140002035	rs140839701	Y>C	A:606	(32.53, 30.05, 15.72)
9:140002043	rs377707640	R>C	A:609	(34.93, 24.85, 11.93)
9:140002046	rs143449562	V>I	A:610	(28.83, 26.07, 10.22)
9:140002050		T>R	A:611	(29.32, 27.31, 6.14)
9:140002052		G>R	A:612	(32.45, 26.03, 4.44)
9:140002059	rs374247020	R>H	A:614	(37.00, 29.00, -0.29)
9:140002068		Q>R	A:617	(39.28, 30.70, 5.05)
9:140002098		F>Y	A:627	(46.06, 43.09, 12.26)
9:140002104	rs200910068 COSM3905967	R>Q	A:629	(50.94, 47.39, 5.17)
9:140002110		T>K	A:631	(50.01, 46.77, 13.74)
9:140002112		R>W	A:632	(55.80, 44.71, 11.93)
9:140002113	rs368503703	R>Q	A:632	(55.80, 44.71, 11.93)
9:140002840		V>F	A:633	(56.65, 46.74, 16.01)
9:140002843		P>S	A:634	(59.86, 46.68, 13.82)
9:140002844	rs369286439	P>L	A:634	(59.86, 46.68, 13.82)
9:140002847	COSM3779849	S>L	A:635	(61.35, 45.55, 17.60)
9:140002856	rs201112296	Y>C	A:638	(52.36, 42.81, 15.87)
9:140002864	rs547087121	I>V	A:641	(46.04, 51.63, 15.79)
9:140002868		N>S	A:642	(45.08, 56.01, 17.72)
9:140002877		Q>P	A:645	(40.09, 56.53, 8.83)
9:140002882		P>S	A:647	(47.19, 54.49, 5.79)
9:140002894	rs114324502	E>K	A:651	(48.42, 57.43, 15.16)
9:140002902		R>S	A:653	(46.99, 53.40, 21.97)
9:140002903		D>N	A:654	(53.06, 51.51, 23.17)
9:140002916		S>N	A:658	(46.26, 39.73, 25.98)
9:140002919		F>C	A:659	(42.82, 40.94, 23.40)
9:140002930	rs371136351	E>K	A:663	(41.13, 36.03, 21.55)
9:140002934	rs200428790	T>M	A:664	(43.23, 37.52, 17.23)
9:140002936	rs201251992	L>F	A:665	(46.74, 35.15, 16.27)
9:140002963	rs181795958	D>N	A:674	(40.71, 22.79, 6.20)
9:140002968		D>E	A:675	(40.61, 19.48, 10.84)
9:140002982	rs138279784	S>T	A:680	(35.19, 20.19, 17.48)
9:140002988		D>V	A:682	(30.79, 18.41, 18.48)
9:140002996	COSM1461324	V>M	A:685	(33.46, 25.41, 24.60)
9:140002999		F>L	A:686	(36.55, 28.12, 22.17)
9:140003006		T>S	A:688	(35.08, 35.16, 26.30)
9:140003008		E>K	A:689	(40.00, 35.68, 26.42)
9:140003023	rs575503145	P>A	A:694	(35.93, 20.38, 27.94)
9:140003024	COSM217443	P>L	A:694	(35.93, 20.38, 27.94)

1FO3.A | MAN1B1.

1FO3.A | MAN1B1

General Structure Information

Variant Set Distributions

Ripley’s K Analysis Plots

Variant Set Comparisons

Pathogenic Proximity Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
9:139994174	COSM3088614	V>M	A:253	(49.38, 32.96, 11.93)
9:139995510	COSM255860	V>M	A:324	(46.57, 42.48, 43.96)
9:139996024	COSM1489834	H>P	A:385	(36.41, 45.85, 46.36)
9:140002007	COSM1461323	R>W	A:597	(39.22, 44.55, 20.38)
9:140002996	COSM1461324	V>M	A:685	(33.46, 25.41, 24.60)
9:140003024	COSM217443	P>R	A:694	(35.93, 20.38, 27.94)